Mucolipin-1 mRNA (MCOLN1 mRNA)

Mucolipin-1 (MCOLN1) mRNA is the transcript responsible for the synthesis of the Mucolipin-1 protein, a non-selective cation channel located in the membranes of late endosomes and lysosomes. This protein, also known as TRPML1, plays a critical role in regulating lysosomal calcium release, which is essential for membrane trafficking, organelle fusion, and autophagy. Mutations in the MCOLN1 gene lead to Mucolipidosis type IV (MLIV), a rare autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation, corneal clouding, and gastric achlorhydria. Therapeutic strategies targeting MCOLN1 mRNA include mRNA replacement therapy to restore protein function and antisense oligonucleotides (ASOs) designed to correct splicing defects associated with specific mutations, such as the common 406-2A>G splice-site mutation. These approaches aim to alleviate the accumulation of undigested lipids and water-soluble substances within lysosomes, thereby slowing or preventing disease progression.

Other names

TRPML1 mRNAML1 mRNAMucolipin 1 messenger RNAMCOLN1 transcriptMucolipidin mRNA

mRNA replacement therapy to restore functional protein expression; Splice-switching to correct aberrant splicing mutations.